Canonical Allele Identifier: CA396897717

Gene: PLCG2

Linked Data

• gnomAD v4: 16-81889207-G-T
• COSMIC: COSM6315863 ; COSM6315864
• MyVariant Identifiers: chr16:g.81922812G>T (hg19) ; chr16:g.81889207G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81889207G>T , CM000678.2:g.81889207G>T	GRCh38
NC_000016.9:g.81922812G>T , CM000678.1:g.81922812G>T	GRCh37
NC_000016.8:g.80480313G>T	NCBI36
NG_032019.2:g.155111G>T , LRG_376:g.155111G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563193.2:c.801G>T	ENSP00000455533.2:p.Glu267Asp
ENST00000697561.1:c.*230G>T	ENSP00000513337.1:n.*230G>T
ENST00000697562.1:c.801G>T	ENSP00000513338.1:p.Glu267Asp
ENST00000697563.1:c.*647G>T	ENSP00000513339.1:n.*647G>T
ENST00000697564.1:c.684G>T	ENSP00000513340.1:p.Glu228Asp
ENST00000697565.1:n.741G>T
ENST00000697581.1:c.*795G>T	ENSP00000513346.1:n.*795G>T
ENST00000697582.1:c.801G>T	ENSP00000513347.1:p.Glu267Asp
ENST00000697583.1:c.600G>T	ENSP00000513349.1:p.Glu200Asp
ENST00000697584.1:c.600G>T	ENSP00000513350.1:p.Glu200Asp
ENST00000697585.1:c.600G>T	ENSP00000513351.1:p.Glu200Asp
ENST00000697586.1:c.600G>T	ENSP00000513352.1:p.Glu200Asp
ENST00000697587.1:c.600G>T	ENSP00000513353.1:p.Glu200Asp
ENST00000564138.6:c.801G>T MANE Select	ENSP00000482457.1:p.Glu267Asp
ENST00000359376.7:c.801G>T	ENSP00000352336.4:p.Glu267Asp
ENST00000563193.1:c.109G>T
ENST00000564138.5:c.801G>T	ENSP00000482457.1:p.Glu267Asp
ENST00000567980.5:n.1045G>T
NM_002661.4:c.801G>T	NP_002652.2:p.Glu267Asp
XM_011523108.1:c.915G>T	XP_011521410.1:p.Glu305Asp
NM_002661.5:c.801G>T MANE Select	NP_002652.2:p.Glu267Asp